Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
SD Vecchia, A Tessa, C Dosi, J Baldacci… - Journal of …, 2022 - Springer
Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical
phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned …
phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned …
Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers
G Mulkerrin, MC França Jr, J Lope… - Expert review of …, 2022 - Taylor & Francis
Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …
heterogeneous group of conditions. Novel imaging modalities have been increasingly …
Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia
YT Chou, SL Hsu, YS Tsai, YJ Lu… - Annals of Clinical …, 2023 - Wiley Online Library
Abstract Objective Hereditary spastic paraplegias (HSPs) are a group of inherited
neurodegenerative disorders characterized by slowly progressive lower limb spasticity and …
neurodegenerative disorders characterized by slowly progressive lower limb spasticity and …
Making waves: The changing tide of cerebral palsy
Cerebral palsy (CP) is a broad diagnosis unbound by aetiology and is based on a clinical
examination demonstrating abnormalities of movement or posture. CP represents a static …
examination demonstrating abnormalities of movement or posture. CP represents a static …